Benefits and drawbacks of preimplantation genetic diagnosis (PGD) for reciprocal translocations: lessons from a prospective cohort study

Paul N. Scriven*, Frances A. Flinter, Yakoub Khalaf, Alison Lashwood, Caroline Mackie Ogilvie

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

45 Citations (Scopus)

Abstract

Preimplantation genetic diagnosis (PGD) using fluorescence in situ hybridisation probes was carried out for 59 couples carrying reciprocal translocations. Before treatment, 85% of pregnancies had resulted in spontaneous miscarriage and five couples had achieved a healthy live-birth delivery. Following treatment, 33% of pregnancies failed and 21of 59 couples had a healthy live-born child. The accuracy of diagnosis was 92% (8% false abnormal and 0% false normal results). The overall incidence of 2: 2 alternate segregation products was 44%; however, products consistent with 2:2 adjacent segregation were similar to twice as likely from male heterozygotes, and those with 3:1 disjunction were three times more likely from female heterozygotes. Our results indicate that up to three stimulation cycles per couple would give an similar to 50% chance of a successful live birth, with the risk of miscarriage reduced to the level found in the general population. In our study, 87% of all normal/balanced embryos available were identified as being suitable for transfer. We conclude that PGD provides benefit for couples with high-risk translocations by reducing the risk of miscarriage and avoiding a pregnancy with an unbalanced form of the translocation; however, for fertile carriers of translocations with a low risk of conceiving a chromosomally unbalanced offspring, natural conception may be a more viable option.

Original languageEnglish
Pages (from-to)1035-1041
Number of pages7
JournalEuropean Journal of Human Genetics
Volume21
Issue number10
DOIs
Publication statusPublished - Oct 2013

Keywords

  • PGD
  • FISH
  • reciprocal translocation
  • diagnostic accuracy
  • meiotic segregation
  • COMPARATIVE GENOMIC HYBRIDIZATION
  • ROBERTSONIAN TRANSLOCATIONS
  • CHROMOSOME-ABNORMALITIES
  • MEIOTIC SEGREGATION
  • UNBALANCED TRANSLOCATIONS
  • HUMAN EMBRYOS
  • CARRIERS
  • CYCLES
  • OUTCOMES
  • COUPLES

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